SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency

SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency

Abstract Background Acid sphingomyelinase deficiency (ASMD) disorder, also known as Niemann–Pick disease (NPD) is a rare genetic disease caused by mutations in SMPD1 gene, which encodes sphingomyelin phosphodiesterase (ASM). Except for liver and spleen enlargement and lung disease, two subtypes (Typ...

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Bibliographic Details
Main Authors: Ruisong Wang, Ziyi Qin, Long Huang, Huiling Luo, Han Peng, Xinyu Zhou, Zhixiang Zhao, Mingyao Liu, Pinhong Yang, Tieliu Shi
Format: Article
Language:English
Published: BMC 2023-03-01
Series:Hereditas
Subjects:
Acid sphingomyelinase deficiency
Niemann-pick disease type a and B
Genotype
Phenotype
Novel target for the subtypes
Online Access:https://doi.org/10.1186/s41065-023-00272-1

Internet

https://doi.org/10.1186/s41065-023-00272-1

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